view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(863): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0152 | 1 | 19 | 0.0526 | 870 | c.24+ others(887): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAPGEF1_chr9_131571775_131745076 | 131586845 | C | CACACACA others(863): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 365 | 0.0027 | 870 | c.323 others(887): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 244 | 0.0041 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0034 | 1 | 244 | 0.0041 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0025 | 1 | 244 | 0.0041 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078543 | G | GCTATGGG others(863): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0029 | 1 | 240 | 0.0042 | 870 | c.-45 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4238 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078543 | G | GCTATGGG others(863): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp2 HG01346.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 7 | 246 | 0.0285 | 870 | c.-45 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4238 | chr1 | TogoVar | |||||||
SLC6A11_chr3_10811228_10945714 | 10873397 | A | ATCCTATC others(863): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 356 | 0.0028 | 870 | c.757 others(887): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(863): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0002 a0001c0001t0007g0002 |
5 | 361 | 0.0139 | 870 | c.*36 others(881): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(863): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(1): Show |
a0007a0020 | a0007c0016a0020c0053 | a0007c0016t0001a0020c0053t0001 | a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 others(1): Show |
4 | 97 | 0.0412 | 870 | c.266 others(887): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185900 | C | CAGATGTT others(863): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0125 | 1 | 290 | 0.0034 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185900 | C | CAGATGTT others(863): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0003 | a0001c0011a0001c0014a0002c0051others(1): Show | a0001c0011t0002a0001c0014t0002a0002c0051t0002others(1): Show | a0001c0011t0002g0311 a0001c0014t0002g0322 a0002c0051t0002g0304 others(6): Show |
9 | 298 | 0.0302 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0095 | 1 | 306 | 0.0033 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(33): Show |
a0002a0003a0007others(4): Show | a0002c0008a0003c0004a0003c0042others(5): Show | a0002c0008t0002a0003c0004t0002a0003c0004t0003others(7): Show | a0002c0008t0002g0015 a0002c0008t0002g0240 a0002c0008t0002g0242 others(32): Show |
36 | 341 | 0.1056 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0040 | 1 | 306 | 0.0033 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0022 | a0022c0035 | a0022c0035t0002 | a0022c0035t0002g0272 | 1 | 306 | 0.0033 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0241 | 1 | 306 | 0.0033 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(863): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 | 1 | 98 | 0.0102 | 870 | c.41- others(887): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TUBGCP3_chr13_112480011_112593153 | 112540467 | C | CCTATGAG others(863): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 299 | 0.0033 | 870 | c.133 others(889): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870617 | A | ACACACAC others(863): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 230 | 0.0043 | 870 | c.*35 others(889): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(863): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0215 | 1 | 100 | 0.0100 | 870 | c.-10 others(887): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF16_chr8_144925358_144955880 | 144946625 | T | TGGGCCTG others(863): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 397 | 0.0025 | 870 | c.-9- others(883): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(864): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0049 | a0049c0108 | a0049c0108t0004 | a0049c0108t0004g0063 | 1 | 293 | 0.0034 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(864): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0040 | a0040c0109 | a0040c0109t0022 | a0040c0109t0022g0354 | 1 | 293 | 0.0034 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0068 | a0068c0044 | a0068c0044t0001 | a0068c0044t0001g0131 | 1 | 154 | 0.0065 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0253 | 1 | 154 | 0.0065 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02630.hp2 HG02647.hp2 others(3): Show |
a0007a0008a0012others(2): Show | a0007c0011a0008c0009a0012c0026others(3): Show | a0007c0011t0004a0008c0009t0001a0012c0026t0006others(3): Show | a0007c0011t0004g0073 a0008c0009t0001g0195 a0012c0026t0006g0072 others(3): Show |
6 | 159 | 0.0377 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(864): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 30 | 0.0333 | 871 | c.505 others(890): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(864): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 92 | 0.0109 | 871 | c.-37 others(882): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(864): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 28 | 0.0714 | 871 | c.94+ others(886): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(864): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 others(1): Show |
4 | 13 | 0.3077 | 871 | c.327 others(888): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(864): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0196 | a0001c0003t0196g0227 | 1 | 356 | 0.0028 | 871 | c.122 others(888): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 419486 | T | TTCCATTA others(864): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 337 | 0.0030 | 871 | c.413 others(886): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591765 | G | GGTGTTGA others(864): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 |
a0007 | a0007c0031 | a0007c0031t0001 | a0007c0031t0001g0301 a0007c0031t0001g0302 |
2 | 328 | 0.0061 | 871 | c.373 others(888): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111326048 | G | GGGTTTTG others(864): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 80 | 0.0125 | 871 | c.292 others(890): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111326051 | T | TTTTGTTT others(864): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0003t0001g0014 others(1): Show |
4 | 96 | 0.0417 | 871 | c.292 others(890): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(864): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show |
7 | 221 | 0.0317 | 871 | c.105 others(886): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435463 | A | AGGGACGG others(864): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 1 | 71 | 0.0141 | 871 | c.-16 others(892): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591765 | G | GGTGTTGA others(864): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 2 | 379 | 0.0053 | 871 | c.*50 others(882): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4036 | chr5 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(864): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 204 | 0.0049 | 871 | c.-36 others(882): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(864): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 205 | 0.0098 | 871 | c.-36 others(882): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(864): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 204 | 0.0049 | 871 | c.-36 others(882): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(864): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0129 | 1 | 144 | 0.0069 | 871 | c.*11 others(892): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(864): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0000 | 1 | 188 | 0.0053 | 871 | c.-30 others(882): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(864): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 11 | 0.0909 | 871 | c.104 others(890): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786775 | A | AGGACCCC others(864): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0206 | 1 | 241 | 0.0041 | 871 | c.430 others(886): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(864): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 296 | 0.0034 | 871 | c.-22 others(882): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930159 | C | CCCCACTG others(864): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0079 | 1 | 254 | 0.0039 | 871 | c.180 others(890): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(864): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 6 | 0.1667 | 871 | c.100 others(890): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(864): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 213 | 0.0047 | 871 | c.250 others(886): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar |